Canonical Allele Identifier: CA2687403978

Gene: CHD7

Linked Data

• gnomAD v4: 8-60852841-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852846_60852848del , CM000670.2:g.60852846_60852848del	GRCh38
NC_000008.10:g.61765405_61765407del , CM000670.1:g.61765405_61765407del	GRCh37
NC_000008.9:g.61927959_61927961del	NCBI36
NG_007009.1:g.179067_179069del , LRG_176:g.179067_179069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6121_6123del	ENSP00000512218.1:p.Ser2041del
ENST00000423902.7:c.6121_6123del MANE Select	ENSP00000392028.1:p.Ser2041del
ENST00000423902.6:c.6121_6123del	ENSP00000392028.1:p.Ser2041del
ENST00000524602.5:c.1717-9383_1717-9381del	ENSP00000437061.1:n.1717-9383_1717-9381del
NM_001316690.1:c.1717-9383_1717-9381del	NP_001303619.1:n.1717-9383_1717-9381del
NM_017780.3:c.6121_6123del	NP_060250.2:p.Ser2041del
XM_011517553.1:c.6211_6213del	XP_011515855.1:p.Ser2071del
XM_011517554.1:c.6211_6213del	XP_011515856.1:p.Ser2071del
XM_011517555.1:c.6211_6213del	XP_011515857.1:p.Ser2071del
XM_011517556.1:c.6211_6213del	XP_011515858.1:p.Ser2071del
XM_011517557.1:c.4198_4200del	XP_011515859.1:p.Ser1400del
XM_011517558.1:c.3748_3750del	XP_011515860.1:p.Ser1250del
XM_011517559.1:c.2956_2958del	XP_011515861.1:p.Ser986del
XM_011517553.2:c.6211_6213del	XP_011515855.1:p.Ser2071del
XM_011517554.3:c.6211_6213del	XP_011515856.1:p.Ser2071del
XM_011517555.2:c.6211_6213del	XP_011515857.1:p.Ser2071del
XM_017013612.1:c.6211_6213del	XP_016869101.1:p.Ser2071del
XM_017013613.1:c.6121_6123del	XP_016869102.1:p.Ser2041del
NM_017780.4:c.6121_6123del MANE Select	NP_060250.2:p.Ser2041del